rs7834765

chr8-121263666-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.319 in 151,726 control chromosomes in the GnomAD database, including 8,507 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.32 (8507 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.924

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.529 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.319 AC: 48349 AN: 151608 Hom.: 8489 Cov.: 31

Gnomad AFR AF: 0.394

Gnomad AMI AF: 0.163

Gnomad AMR AF: 0.426

Gnomad ASJ AF: 0.250

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.412

Gnomad FIN AF: 0.308

Gnomad MID AF: 0.244

Gnomad NFE AF: 0.233

Gnomad OTH AF: 0.310

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.319 AC: 48422 AN: 151726 Hom.: 8507 Cov.: 31 AF XY: 0.326 AC XY: 24177 AN XY: 74124

Gnomad4 AFR AF: 0.395

Gnomad4 AMR AF: 0.427

Gnomad4 ASJ AF: 0.250

Gnomad4 EAS AF: 0.546

Gnomad4 SAS AF: 0.410

Gnomad4 FIN AF: 0.308

Gnomad4 NFE AF: 0.233

Gnomad4 OTH AF: 0.314

Alfa AF: 0.291 Hom.: 925

Bravo AF: 0.329

Asia WGS AF: 0.477 AC: 1655 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	0.18
Dann	Benign	0.31

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7834765; hg19: chr8-122275906;